Canonical Allele Identifier: CA348405681
Gene: PROC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428622A>T , CM000664.2:g.127428622A>T GRCh38
NC_000002.11:g.128186198A>T , CM000664.1:g.128186198A>T GRCh37
NC_000002.10:g.127902668A>T NCBI36
NG_016323.1:g.15203A>T , LRG_599:g.15203A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1062A>T MANE Select ENSP00000234071.4:p.Arg354Ser
ENST00000234071.7:c.1062A>T ENSP00000234071.3:p.Arg354Ser
ENST00000402125.2:c.386A>T
ENST00000409048.1:c.1164A>T ENSP00000386679.1:p.Arg388Ser
NM_000312.3:c.1062A>T , LRG_599t1:c.1062A>T NP_000303.1:p.Arg354Ser
XM_005263715.3:c.1245A>T XP_005263772.1:p.Arg415Ser
XM_005263716.3:c.1227A>T XP_005263773.1:p.Arg409Ser
XM_005263717.3:c.1125A>T XP_005263774.1:p.Arg375Ser
XR_923313.1:n.1332-358T>A
XM_005263717.4:c.1125A>T XP_005263774.1:p.Arg375Ser
XM_017004505.1:c.1305A>T XP_016859994.1:p.Arg435Ser
XM_024453002.1:c.1407A>T XP_024308770.1:p.Arg469Ser
XM_024453003.1:c.1347A>T XP_024308771.1:p.Arg449Ser
XM_024453004.1:c.1245A>T XP_024308772.1:p.Arg415Ser
XM_024453005.1:c.1227A>T XP_024308773.1:p.Arg409Ser
XM_024453006.1:c.1164A>T XP_024308774.1:p.Arg388Ser
XR_001739705.1:n.3607-358T>A
XR_923313.2:n.4043-358T>A
NM_000312.4:c.1062A>T MANE Select NP_000303.1:p.Arg354Ser
NM_001375602.1:c.1245A>T NP_001362531.1:p.Arg415Ser
NM_001375603.1:c.1227A>T NP_001362532.1:p.Arg409Ser
NM_001375604.1:c.1125A>T NP_001362533.1:p.Arg375Ser
NM_001375605.1:c.1164A>T NP_001362534.1:p.Arg388Ser
NM_001375606.1:c.1230A>T NP_001362535.1:p.Arg410Ser
NM_001375607.1:c.1248A>T NP_001362536.1:p.Arg416Ser
NM_001375608.1:c.1005A>T NP_001362537.1:p.Arg335Ser
NM_001375609.1:c.1038A>T NP_001362538.1:p.Arg346Ser
NM_001375610.1:c.1056A>T NP_001362539.1:p.Arg352Ser
NM_001375611.1:c.1062A>T NP_001362540.1:p.Arg354Ser
NM_001375613.1:c.1062A>T NP_001362542.1:p.Arg354Ser